research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
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30-60 / 1000+ resultsresearch Anti‐keratin Monoclonal Antibody against Basal Cell Epithelioma Keratin: BKN‐1
This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
research Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin?
This study found that TRH modulates specific keratins in human scalp tissue, suggesting its potential influence on hair growth and the need for further exploration of neuroendocrine controls in keratin expression.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
This study demonstrated immunological cross-reactivity between mycobacterial heat-shock protein 65 and human epidermal cytokeratin 1/2, suggesting that this cross-reactive epitope might play a role in skin diseases.
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
research Epidermal Differentiation Enhances CRABP II Expression in Human Skin
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Rhodamin B Stain for Keratin: Evaluation of its Specificity and its Application in Dermal Pathology
This study found that Rhodamin B staining of keratin was inconsistent across normal skin, epithelial tumors, and dermatoses, with notable differences in staining intensity between tricho-hyalin and keratohyalin granules.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
research Rab5c-mediated endocytic trafficking regulates hematopoietic stem and progenitor cell development via Notch and AKT signaling
This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
research Trichothiodystrophy
research The role of CTHRC1 in hair follicle regenerative capacity restored by plantar dermis homogenate
This study found that plantar dermis matrix homogenate can partially restore the regenerative capacity of hair follicles impaired in culture, with CTHRC1 playing a critical role in this process.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
research The molecular basis of human keratin disorders
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.